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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:acrofacial dysostosis Rodriguez type
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Accession:DOID:0060383 term browser browse the term
Definition:An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: Acrofacial Dysostosis Syndrome Of Rodriguez;   Rodriguez lethal acrofacial dysostosis syndrome
 primary_id: MESH:C538183
 alt_id: OMIM:201170;   RDO:0004126
 xref: GARD:496;   ORDO:1788
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    Developmental Diseases 9044
      bone development disease 1308
        dysostosis 336
          acrofacial dysostosis 4
            acrofacial dysostosis Rodriguez type 0
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      Skin and Connective Tissue Diseases 4837
        connective tissue disease 3620
          bone disease 3101
            bone development disease 1308
              dysostosis 336
                synostosis 222
                  craniosynostosis 168
                    Crouzon syndrome 22
                      Mandibulofacial Dysostosis 16
                        acrofacial dysostosis Rodriguez type 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.